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Journal Abstract Search

182 related items for PubMed ID: 34089516

  • 1. Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations.
    Anglani F, Salviati L, Cassina M, Rigato M, Gobbi L, Calò LA.
    J Nephrol; 2022 Apr; 35(3):859-862. PubMed ID: 34089516
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  • 3. The Molecular Genetics of Gordon Syndrome.
    Mabillard H, Sayer JA.
    Genes (Basel); 2019 Nov 29; 10(12):. PubMed ID: 31795491
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  • 4. Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).
    Glover M, Ware JS, Henry A, Wolley M, Walsh R, Wain LV, Xu S, Van't Hoff WG, Tobin MD, Hall IP, Cook S, Gordon RD, Stowasser M, O'Shaughnessy KM.
    Clin Sci (Lond); 2014 May 29; 126(10):721-6. PubMed ID: 24266877
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  • 11. WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3.
    Susa K, Sohara E, Takahashi D, Okado T, Rai T, Uchida S.
    Biochem Biophys Res Commun; 2017 Sep 23; 491(3):727-732. PubMed ID: 28743496
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  • 12. Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain.
    Lin CM, Cheng CJ, Yang SS, Tseng MH, Yen MT, Sung CC, Lin SH.
    FASEB J; 2019 Jan 23; 33(1):1051-1061. PubMed ID: 30148674
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  • 13. Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice.
    Susa K, Sohara E, Rai T, Zeniya M, Mori Y, Mori T, Chiga M, Nomura N, Nishida H, Takahashi D, Isobe K, Inoue Y, Takeishi K, Takeda N, Sasaki S, Uchida S.
    Hum Mol Genet; 2014 Oct 01; 23(19):5052-60. PubMed ID: 24821705
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  • 15. Combined Kelch-like 3 and Cullin 3 Degradation is a Central Mechanism in Familial Hyperkalemic Hypertension in Mice.
    Maeoka Y, Ferdaus MZ, Cornelius RJ, Sharma A, Su XT, Miller LN, Robertson JA, Gurley SB, Yang CL, Ellison DH, McCormick JA.
    J Am Soc Nephrol; 2022 Mar 01; 33(3):584-600. PubMed ID: 35064051
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